Developmental and Behavioral Pediatrics
(First Affiliated Hospital of Jilin University)
General information
Developmental and Behavioral Pediatrics
First Affiliated Hospital of Jilin University
No. 1 xinmin Street
Changchun
China - 130021
Organization ID: 508612
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 47
Gene
| Gene | Submissions | Last Updated |
|---|
| ACADM | 2 | Mar 13, 2023 |
| ADSL | 1 | Mar 13, 2023 |
| AFG2A | 2 | Mar 13, 2023 |
| ARX | 1 | Mar 13, 2023 |
| ATP1A3 | 1 | Sep 29, 2022 |
| BIVM-ERCC5 | 2 | Mar 12, 2023 |
| CPLANE1 | 2 | Mar 13, 2023 |
| CUL4B | 1 | Mar 13, 2023 |
| DDX3X | 1 | Mar 13, 2023 |
| DLL1 | 1 | Mar 12, 2023 |
| EEF1A2 | 1 | Mar 12, 2023 |
| ERCC5 | 2 | Mar 12, 2023 |
| FOXP1 | 1 | Mar 13, 2023 |
| GRIA3 | 1 | Sep 29, 2022 |
| GRIN2A | 1 | Sep 29, 2022 |
| H3-3A | 1 | Mar 12, 2023 |
| HUWE1 | 1 | Mar 12, 2023 |
| IDS | 1 | Sep 28, 2022 |
| LOC106050102 | 1 | Sep 28, 2022 |
| LOC126806714 | 1 | Mar 13, 2023 |
| LOC126861834 | 1 | Mar 12, 2023 |
| LOC129930446 | 2 | Mar 13, 2023 |
| LOC129935026 | 1 | Mar 13, 2023 |
| LRP2 | 2 | Mar 12, 2023 |
| MECP2 | 2 | Mar 13, 2023 |
| MMACHC | 2 | Mar 13, 2023 |
| NIPBL | 1 | Mar 12, 2023 |
| PDE10A | 2 | Sep 29, 2022 |
| PRKN | 1 | Mar 12, 2023 |
| PTEN | 2 | Mar 12, 2023 |
| RAD51 | 1 | Mar 12, 2023 |
| RUSC2 | 2 | Mar 12, 2023 |
| RYR1 | 1 | Sep 29, 2022 |
| SATB2 | 1 | Mar 12, 2023 |
| SETBP1 | 1 | Mar 12, 2023 |
| SMARCA2 | 1 | Mar 12, 2023 |
| SPAST | 1 | Sep 29, 2022 |
| SPTAN1 | 1 | Sep 29, 2022 |
| TBL1XR1 | 1 | Mar 12, 2023 |
| TBR1 | 1 | Mar 13, 2023 |
| TBX2 | 1 | Mar 12, 2023 |
| TRMT1 | 1 | Sep 29, 2022 |
| WDR45 | 1 | Mar 12, 2023 |
Condition
| Name | Submissions | Last Updated | | Adenylosuccinate lyase deficiency | 1 | Mar 13, 2023 |
| Autism, susceptibility to, 5 | 1 | Mar 13, 2023 |
| Autosomal recessive juvenile Parkinson disease 2 | 1 | Mar 12, 2023 |
| Blepharophimosis-impaired intellectual development syndrome | 1 | Mar 12, 2023 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 1 | 1 | Mar 12, 2023 |
| Central core myopathy | 1 | Sep 29, 2022 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Mar 12, 2023 |
| Cobalamin C disease | 2 | Mar 13, 2023 |
| Cornelia de Lange syndrome 1 | 1 | Mar 12, 2023 |
| Developmental and epileptic encephalopathy 99 | 1 | Sep 29, 2022 |
| Developmental and epileptic encephalopathy, 5 | 1 | Sep 29, 2022 |
| Donnai-Barrow syndrome | 2 | Mar 12, 2023 |
| Fanconi anemia complementation group R | 1 | Mar 12, 2023 |
| Hereditary spastic paraplegia 4 | 1 | Sep 29, 2022 |
| Infantile-onset generalized dyskinesia with orofacial involvement | 2 | Sep 29, 2022 |
| Intellectual developmental disorder, autosomal recessive 68 | 1 | Sep 29, 2022 |
| Intellectual disability, X-linked 102 | 1 | Mar 13, 2023 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Mar 12, 2023 |
| Intellectual disability, X-linked, with or without seizures, arx-related | 1 | Mar 13, 2023 |
| Intellectual disability, autosomal dominant 29 | 1 | Mar 12, 2023 |
| Intellectual disability, autosomal dominant 38 | 1 | Mar 12, 2023 |
| Intellectual disability, autosomal dominant 41 | 1 | Mar 12, 2023 |
| Intellectual disability, autosomal recessive 61 | 2 | Mar 12, 2023 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Mar 13, 2023 |
| Joubert syndrome 17 | 2 | Mar 13, 2023 |
| Landau-Kleffner syndrome | 1 | Sep 29, 2022 |
| Macrocephaly-autism syndrome | 2 | Mar 12, 2023 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 | Mar 13, 2023 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 2 | Mar 13, 2023 |
| Mucopolysaccharidosis, MPS-II | 1 | Sep 28, 2022 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Mar 12, 2023 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Mar 12, 2023 |
| Rett syndrome | 2 | Mar 13, 2023 |
| Syndromic X-linked intellectual disability 94 | 1 | Sep 29, 2022 |
| Vertebral anomalies and variable endocrine and T-cell dysfunction | 1 | Mar 12, 2023 |
| X-linked intellectual disability Cabezas type | 1 | Mar 13, 2023 |
| Xeroderma pigmentosum, group G | 2 | Mar 12, 2023 |
